Rare Diseases And Their Causes

A disease is rare if fewer than 200,000 people in the United States have it. There are close to 7,000 rare diseases and about 25 million people in the U.S. have one. Many rare diseases are caused by changes in genes and are called genetic diseases. Getting a correct diagnosis is often a major challenge for someone who has a rare disease. Many people are unable to get a diagnosis or are misdiagnosed. It may seem obvious, but the very fact that a disease is rare makes it very difficult to be recognized. You may see many doctors before you finally find one who knows something about what you have. Some diseases are so rare that only a geneticist (genetics specialist) would be able to identify them after genetic testing is done.

Some rare diseases have symptoms, such as weakness, anemia, pain, vision problems, dizziness or coughing. Many different diseases can cause these symptoms, so they are called “nonspecific,” meaning they are not signs of a specific disease. Doctors are trained to look at more common causes of symptoms first, so they may not be thinking along the lines of a rare disease when they examine you. It seems logical that having an unusual symptom would help in pinpointing a diagnosis. This is true if the doctor examining you is familiar with a disease that causes the symptom. If he or she doesn’t know of any disease that causes the symptom, then most likely you will be referred to a specialist who may know something about your condition. You may have a rare disease, but your symptoms do not fit the “classic” or typical picture of the disease. You may have symptoms that don’t usually go along with the disease, or you may not have all the symptoms that are expected with the disease. Doctors may hesitate to diagnose you with the rare disease because of this.

One of the significant rare diseases is the Dengue Fever. It is a mosquito-spread illness that emerged from somewhere in the United States. Dengue fever is a disease caused by a family of viruses that are transmitted by mosquitoes. It is an acute illness of sudden onset that usually follows a benign course with symptoms such as headache, fever, exhaustion, severe muscle and joint pain, swollen glands and rash. Another significant rare disease is the Horner’s Syndrome. Horner syndrome results from an interruption of the sympathetic nerve supply to the eye and is characterized by the classic triad of meiosis. It refers to a constellation of signs produced when sympathetic innervations to the eye is interrupted. These are some examples of the rare diseases.

Tips and comments:

Rare diseases are a serious public health concern and a priority in the health sector and research programs. Law and funding for R&D projects aim to promote the development of orphan drugs for patients with rare diseases. Although these diseases are hard to detect and one in a thousand people carries them, a common knowledge about these diseases is still very important.